# Genetic Control of Phenotypic Variability in Collagen VI Related Muscular Dystrophies

> **NIH NIH K08** · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · 2020 · $202,492

## Abstract

PROJECT SUMMARY/ABSTRACT
Candidate: The proposed career development award is designed to support the transition of Dr. Russell
Butterfield to an independent physician-scientist and leader in study of the congenital muscular dystrophies.
Dr. Butterfield's PhD work in genetic analysis of complex traits to identify susceptibility loci for autoimmune
disease gave him a solid foundation in genetics and computational biology. His clinical training in child
neurology and neuromuscular disorders has given him a firm foundation in clinical research. His recent work
cataloging genotype-phenotype correlations in collagen VI related muscular dystrophies (COL6-RD) and
storing patient samples will provide the necessary patient resource to pursue further studies. He has
developed computational skills in the analysis of next-generation sequencing data, including RNA-Seq and
exome sequencing. Dr. Butterfield has assembled a strong mentoring team with Dr. Gabrielle Kardon as
Primary mentor, and Drs. Robert Weiss and Carsten Bonnemann as co-mentors. With the guidance of his
mentors, Dr. Butterfield has designed a career development plan to encompass a 5-year period that will build
on his previous experience in genetic analysis and develop new skills in gene-targeting, mouse model
development, and cellular and molecular biology techniques, and proteomics. During the award period he will
receive formal training in gene targeting, microscopy, mass spectroscopy and proteomics, mouse phenotyping,
research administration, and leadership. His mentors provide expertise and experience that is both distinct and
complementary. They are internationally recognized experts with long and successful track records of funding
and trainee mentorship. The work proposed here will fill the gaps in his training in cellular and molecular
biology and genetic manipulation of model organisms. In addition, this research will allow him to position
himself as a leader in the congenital muscular dystrophies and as a successful independent investigator
Research: COL6-RD are inherited disorders of collagen VI characterized by progressive muscle weakness
and a combination of distal joint laxity and proximal joint contractures. COL6-RD are increasingly recognized
disorders accounting for up to 30% of patients with congenital muscular dystrophy (CMD). Children with
COL6-RD have life-long neurologic, orthopedic, and pulmonary complications necessitating complex,
multispecialty care. There are no treatments. Phenotypic heterogeneity is the hallmark of COL6-RD with a
spectrum of severity in patients from the very severe Ullrich congenital muscular dystrophy (UCMD) to the
milder Bethlem myopathy (BM). Factors controlling severity in COL6-RD patients are largely unknown. Dr.
Butterfield's research plan incorporates 3 related aims with a goal to identify factors that control phenotypic
heterogeneity in COL6-RD and develop a mouse model that reflects the heterogeneity seen in human COL6-
RD. In the first ai...

## Key facts

- **NIH application ID:** 9930659
- **Project number:** 5K08NS097631-05
- **Recipient organization:** UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH
- **Principal Investigator:** Russell James Butterfield
- **Activity code:** K08 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $202,492
- **Award type:** 5
- **Project period:** 2016-08-01 → 2021-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9930659

## Citation

> US National Institutes of Health, RePORTER application 9930659, Genetic Control of Phenotypic Variability in Collagen VI Related Muscular Dystrophies (5K08NS097631-05). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/9930659. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*